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213 results
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Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.
Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP. Sakai T, et al. Among authors: dryja tp. Nature. 1991 Sep 5;353(6339):83-6. doi: 10.1038/353083a0. Nature. 1991. PMID: 1881452
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. McGee TL, et al. Among authors: dryja tp. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507924 Free PMC article.
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP. Thiagalingam S, et al. Among authors: dryja tp. Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681. Ophthalmic Genet. 2007. PMID: 17896311
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
Mylvaganam GH, McGee TL, Berson EL, Dryja TP. Mylvaganam GH, et al. Among authors: dryja tp. Mol Vis. 2006 Dec 4;12:1496-8. Mol Vis. 2006. PMID: 17167406
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP. Rivolta C, et al. Among authors: dryja tp. Hum Mutat. 2006 Jul;27(7):644-53. doi: 10.1002/humu.20325. Hum Mutat. 2006. PMID: 16708387
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP. Wada Y, et al. Among authors: dryja tp. Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41. doi: 10.1167/iovs.04-1197. Invest Ophthalmol Vis Sci. 2005. PMID: 15851576
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Sweeney MO, McGee TL, Berson EL, Dryja TP. Sweeney MO, et al. Among authors: dryja tp. Mol Vis. 2007 Apr 5;13:588-93. Mol Vis. 2007. PMID: 17438524 Free PMC article.
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP. Seyedahmadi BJ, et al. Among authors: dryja tp. Exp Eye Res. 2004 Aug;79(2):167-73. doi: 10.1016/j.exer.2004.03.005. Exp Eye Res. 2004. PMID: 15325563
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: dryja tp. Nature. 2004 Jan 1;427(6969):75-8. doi: 10.1038/nature02170. Nature. 2004. PMID: 14702087
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
Nishiguchi KM, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: dryja tp. Mol Vis. 2004 Jan 26;10:62-4. Mol Vis. 2004. PMID: 14758335
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